Debarshi Mustafi

10PUBLICATIONS
23CO-AUTHORS
Ophthalmology and optometry not elsewhere classifiedMolecular targetsGene mappingGenomicsOptical technology
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Publications (10)

|Jun 05, 2026
A novel <i>CAPN5</i> missense variant associated with autosomal dominant neovascular inflammatory vitreoretinopathy.

|May 07, 2026
Optoretinography in R9AP-bradyopsia reveals the essential role of G-protein signaling in the human cone elongation response.

|Sep 30, 2025
A genotype to phenotype relationship of exudative vitreoretinopathy in Loeys-Dietz syndrome due to a pathogenic variant in <i>TGFBR2</i>.

Mark Lindquist, Viridiana Hernandez-Lopez, Debarshi Mustafi

|Aug 13, 2025
Importance of genome reference and population datasets for annotation and prioritization of disease-causing variants in inherited retinal diseases.

Stefan T Stafie, Mark Lindquist, Samuel Kusher-Lenhoff

|Mar 31, 2025
Longitudinal changes in optoretinography provide an early and sensitive biomarker of outer retinal disease.

Teng Liu, Benjamin Wendel, Jennifer Huey

|Jan 07, 2025
Phosphoribosyl pyrophosphate synthetase 1 (<i>PRPS1</i>) associated retinal degeneration: an international study.

Ogul E Uner, Radwa Elsharawi, Margaret Reynolds

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Frequent Collaborators

2 joint publications

Vimal Prabhu Pandiyan

1 joint publications

Pankhuri Gupta

1 joint publications

Nick Radulovich

1 joint publications

Jennifer R Chao